A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis.
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Grundy CB, Chisholm M, Kakkar VV, Cooper DN
A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis.
Hum Genet. 1992 Aug;89(6):683-4.
- PubMed ID
- 1511988 [ View in PubMed]
- Abstract
A novel homozygous CCC----CTC (Pro 247----Leu) substitution was detected in the protein C genes of a patient, born to consanguineous parents, with inherited type 1 protein C deficiency and recurrent venous thrombosis. Since one of four heterozygous relatives was also clinically affected, the condition appears to be inherited as an incompletely recessive trait in this family.